The 2021 EULAR/American College of Rheumatology points to consider for diagnosis, management and monitoring of the interleukin-1 mediated autoinflammatory …

M Romano, ZS Arici, D Piskin, S Alehashemi… - Annals of the …, 2022 - ard.bmj.com
Background The interleukin-1 (IL-1) mediated systemic autoinflammatory diseases,
including the cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor …

Mosaicism in autoinflammatory diseases: cryopyrin-associated periodic syndromes (CAPS) and beyond. A systematic review

M Labrousse, C Kevorkian-Verguet… - Critical reviews in …, 2018 - Taylor & Francis
Autoinflammatory diseases (AIDs) are conditions related to defective regulation of the innate
immune system. Sanger sequencing of the causative genes has long been the reference for …

Somatic mosaicism in inborn errors of immunity: Current knowledge, challenges, and future perspectives

J Aluri, MA Cooper - Seminars in immunology, 2023 - Elsevier
Inborn errors of immunity (IEI) are a diverse group of monogenic disorders of the immune
system due to germline variants in genes important for the immune response. Over the past …

[HTML][HTML] Autoinflammatory diseases in childhood

M Yıldız, F Haşlak, A Adrovic, K Barut… - Balkan Medical …, 2020 - ncbi.nlm.nih.gov
Autoinflammatory diseases are characterized by recurrent fevers and clinical findings of
impaired natural immunity and can involve various organ systems. The concept of …

Systematic literature review of efficacy/effectiveness and safety of current therapies for the treatment of cryopyrin-associated periodic syndrome, hyperimmunoglobulin …

JB Kuemmerle-Deschner, R Gautam, AT George… - RMD open, 2020 - rmdopen.bmj.com
Objectives Several therapies are used for the treatment of rareautoinflammatory conditions
like cryopyrin-associated periodic fever syndromes (CAPS), hyperimmunoglobulin …

The genetic and clinical characteristics and effects of Canakinumab on cryopyrin-associated periodic syndrome: a large pediatric cohort study from China

Z Shu, Y Zhang, T Han, Y Li, Y Piao, F Sun… - Frontiers in …, 2023 - frontiersin.org
Cryopyrin-associated periodic syndrome (CAPS) comprises a group of disorders
characterized by recurrent bouts of systemic inflammation related to overactivation of …

Spectrum of the neurologic manifestations in childhood-onset cryopyrin-associated periodic syndrome

H Kilic, S Sahin, C Duman, A Adrovic, K Barut… - European Journal of …, 2019 - Elsevier
Objective Neurologic complications of chronic infantile neurologic, cutaneous and articular
syndrome (CINCA) are well-known, whereas there are scarce data regarding neurologic …

Low-frequency mosaicism in cryopyrin-associated periodic fever syndrome: mosaicism in systemic autoinflammatory diseases

R Nishikomori, K Izawa, N Kambe… - International …, 2019 - academic.oup.com
Autoinflammatory disease is an 'inborn error of immunity', resulting in systemic inflammation.
Cryopyrin-associated periodic syndrome (CAPS) is a prototypical autoinflammatory disease …

[PDF][PDF] Cryopyrin-associated periodic syndromes

P Quartier, F Rodrigues, S Georgin-Lavialle - Rev Med Interne, 2018 - researchgate.net
abstract Cryopyrin-associated periodic syndromes (CAPS) are linked to one single gene
mutations, however they are associated with 3 syndromes, which are, from the mildest to the …

The eye involvement in monogenic autoinflammatory diseases: literature review and update

J Sota, A Vitale, C Fabiani, B Frediani… - Clinical and …, 2018 - usiena-air.unisi.it
Monogenic autoinflammatory diseases (AIDs) are rare entities characterised by improper
activation of the innate immune system. This in turn determines recurrent episodes of …